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Enrolling by invitation NCT06369974

Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy

Phase I / Phase II Interventional Genetic Disease

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Antisense oligonucleotide treatment (ASO).
Who it may be relevant to
Registry conditions: Genetic Disease. Basic parameters: from 4 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for TUBB4A-related Leukodystrophy

Overview

This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single pediatric participant with TUBB4A associated leukodystrophy.

Detailed description

This is an interventional study to evaluate the safety and efficacy of treatment with an individualized antisense oligonucleotide (ASO) treatment in a single pediatric participant with a de novo pathogenic gain of function TUBB4A mutation associated with severe leukodystrophy with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)

Interventions

  • Drug Antisense oligonucleotide treatment (ASO)
    Drug: nL-TUBB4-001; Personalized antisense oligonucleotide

Primary outcome measures

  • Neurological assessments [Time frame: Baseline to 24 months]
Secondary outcome measures (2)
  • Feeding and swallow evaluation [Time frame: Baseline to 24 months]
  • Safety and tolerability [Time frame: Baseline to 24 months]

Eligibility criteria

Inclusion criteria

  • Informed consent/assent provided by the participant (when appropriate), and/or participant's parent(s) or legally authorized representative(s).
  • Ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records.
  • Clinical phenotype and neuroimaging consistent with a diagnosis of TUBB4A-related leukodystrophy/Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC)
  • Documented genetic mutation in TUBB4A

Exclusion criteria

  • Participant has any known contraindication to or unwillingness to undergo lumbar puncture
  • Use of investigational medication within 5 half-lives of the drug at enrolment
  • Participant has any condition that in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Allocation
N/A
Model
Single group
Masking
Open label
Primary purpose
Treatment

Study locations

United States · 1 center
  • Massachusetts General Hospital — Boston

Identifiers

NCT: NCT06369974 · 2024P000386

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗